Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000497753 [[231114726, 231115265], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231132900]] None
ENST00000310256 [[231114794, 231115025], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133013], [231135883, 231136341]] [[231114851, 231115025], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133009]]
ENST00000366658 [[231114839, 231115025], [231125855, 231126009], [231131505, 231131730], [231132866, 231133013], [231135883, 231136341]] [[231114851, 231115025], [231125855, 231126009], [231131505, 231131730], [231132866, 231133009]]
ENST00000480519 [[231114856, 231115002], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133013], [231135368, 231135613]] [[231114900, 231115002], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133009]]
ENST00000450711 [[231114861, 231115025], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133013], [231135368, 231135549]] [[231114861, 231115025], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133009]]
ENST00000435927 [[231114891, 231115025], [231124065, 231124185], [231125855, 231126009], [231126345, 231126444], [231131505, 231131730], [231132866, 231133013]] [[231114891, 231115025], [231124065, 231124185], [231125855, 231126009], [231126345, 231126444], [231131505, 231131730], [231132866, 231133009]]
ENST00000459891 [[231131505, 231131730], [231132866, 231133013], [231135368, 231135547], [231135883, 231136341]] [[231131505, 231131730], [231132866, 231133009]]
NM_022786 [[231114794, 231115025], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133013], [231135883, 231136479]] [[231114851, 231115025], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133009]]
NR_144538 [[231114794, 231115025], [231124065, 231124185], [231125855, 231126009], [231131505, 231131730], [231132866, 231133013], [231135368, 231135547], [231135883, 231136479]] None
NM_001346992 [[231114794, 231115025], [231124065, 231124185], [231125855, 231126009], [231126345, 231126444], [231131505, 231131730], [231132866, 231133013], [231135883, 231136479]] [[231114851, 231115025], [231124065, 231124185], [231125855, 231126009], [231126345, 231126444], [231131505, 231131730], [231132866, 231133009]]
Promoter
Chrom Start End Description
chr1 231114810 231114854 CAGE_peak_1_at_ARV1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I230976 230976824 230980430 2.31 [{'connected_gene': 'TTC13', 'score': 564.67}, {'connected_gene': 'ARV1', 'score': 560.28}, {'connected_gene': 'C1orf131', 'score': 12.59}, {'connected_gene': 'EXOC8', 'score': 6.17}, {'connected_gene': 'FAM89A', 'score': 5.84}, {'connected_gene': 'LOC101927604', 'score': 4.32}, {'connected_gene': 'SPRTN', 'score': 2.76}, {'connected_gene': 'GC01P230904', 'score': 0.19}]
chr1 GH01I230982 230982835 230982984 0.31 [{'connected_gene': 'TTC13', 'score': 9.37}, {'connected_gene': 'ARV1', 'score': 0.77}, {'connected_gene': 'MIR1182', 'score': 0.28}]
chr1 GH01I230985 230985012 230985579 0.89 [{'connected_gene': 'TTC13', 'score': 11.39}, {'connected_gene': 'ARV1', 'score': 0.44}, {'connected_gene': 'MIR1182', 'score': 0.29}]
chr1 GH01I231013 231013626 231014158 0.38 [{'connected_gene': 'FAM89A', 'score': 10.83}, {'connected_gene': 'ARV1', 'score': 9.8}, {'connected_gene': 'TTC13', 'score': 8.85}, {'connected_gene': 'MIR1182', 'score': 0.44}]
chr1 GH01I231015 231015988 231017742 0.38 [{'connected_gene': 'FAM89A', 'score': 11.04}, {'connected_gene': 'ARV1', 'score': 9.96}, {'connected_gene': 'TTC13', 'score': 8.04}, {'connected_gene': 'MIR1182', 'score': 0.77}]
chr1 GH01I231037 231037484 231041518 2.04 [{'connected_gene': 'FAM89A', 'score': 560.61}, {'connected_gene': 'C1orf131', 'score': 62.98}, {'connected_gene': 'COG2', 'score': 18.64}, {'connected_gene': 'ARV1', 'score': 10.98}, {'connected_gene': 'SPRTN', 'score': 10.81}, {'connected_gene': 'LOC644006', 'score': 5.6}]
chr1 GH01I230939 230939935 230940084 0.31 [{'connected_gene': 'FAM89A', 'score': 10.66}, {'connected_gene': 'LOC101927604', 'score': 10.52}, {'connected_gene': 'C1orf198', 'score': 10.5}, {'connected_gene': 'ARV1', 'score': 6.06}, {'connected_gene': 'TTC13', 'score': 0.28}, {'connected_gene': 'GC01P230904', 'score': 0.28}]
chr1 GH01I231625 231625939 231629214 2.04 [{'connected_gene': 'DISC1', 'score': 569.02}, {'connected_gene': 'C1orf131', 'score': 36.11}, {'connected_gene': 'SPRTN', 'score': 11.81}, {'connected_gene': 'ARV1', 'score': 10.8}, {'connected_gene': 'COG2', 'score': 9.77}, {'connected_gene': 'RNU5A-5P', 'score': 0.26}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.15}]
chr1 GH01I230136 230136214 230137007 0.51 [{'connected_gene': 'GALNT2', 'score': 15.43}, {'connected_gene': 'ARV1', 'score': 5.21}, {'connected_gene': 'GC01P230113', 'score': 0.34}, {'connected_gene': 'GC01M230200', 'score': 0.14}]
chr1 GH01I230971 230971786 230973962 0.94 [{'connected_gene': 'C1orf131', 'score': 16.2}, {'connected_gene': 'FAM89A', 'score': 14.86}, {'connected_gene': 'ARV1', 'score': 10.23}, {'connected_gene': 'COG2', 'score': 9.86}, {'connected_gene': 'TTC13', 'score': 9.07}, {'connected_gene': 'C1orf198', 'score': 4.4}, {'connected_gene': 'GC01P230904', 'score': 0.2}]
chr1 GH01I230902 230902385 230902708 0.24 [{'connected_gene': 'LOC101927604', 'score': 11.24}, {'connected_gene': 'C1orf198', 'score': 11.18}, {'connected_gene': 'ARV1', 'score': 7.74}, {'connected_gene': 'TTC13', 'score': 3.64}, {'connected_gene': 'COG2', 'score': 2.27}, {'connected_gene': 'C1orf131', 'score': 1.62}, {'connected_gene': 'GNPAT', 'score': 1.29}, {'connected_gene': 'GC01P230904', 'score': 0.77}, {'connected_gene': 'RN7SL837P', 'score': 0.44}]